TXNDC16 (thioredoxin domain containing 16) - Rat Genome Database

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Gene: TXNDC16 (thioredoxin domain containing 16) Homo sapiens
Analyze
Symbol: TXNDC16
Name: thioredoxin domain containing 16
RGD ID: 1315553
HGNC Page HGNC:19965
Description: Located in endoplasmic reticulum lumen.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ERp90; KIAA1344; thioredoxin domain-containing protein 16
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381452,430,596 - 52,552,505 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1452,429,472 - 52,552,547 (-)EnsemblGRCh38hg38GRCh38
GRCh371452,897,314 - 53,019,223 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361451,967,059 - 52,088,963 (-)NCBINCBI36Build 36hg18NCBI36
Celera1432,764,912 - 32,886,888 (-)NCBICelera
Cytogenetic Map14q22.1NCBI
HuRef1433,057,647 - 33,180,093 (-)NCBIHuRef
CHM1_11452,836,496 - 52,958,271 (-)NCBICHM1_1
T2T-CHM13v2.01446,637,669 - 46,760,351 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10718198   PMID:12477932   PMID:14702039   PMID:16344560   PMID:18029348   PMID:19199708   PMID:21359175   PMID:22119785   PMID:22419666   PMID:23535732   PMID:24556642   PMID:25122923  
PMID:26186194   PMID:26496610   PMID:26638075   PMID:28380382   PMID:28514442   PMID:28675297   PMID:29669786   PMID:30021884   PMID:32838362   PMID:33961781   PMID:34079125   PMID:35007762  
PMID:35013218   PMID:35384245   PMID:35696571  


Genomics

Comparative Map Data
TXNDC16
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381452,430,596 - 52,552,505 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1452,429,472 - 52,552,547 (-)EnsemblGRCh38hg38GRCh38
GRCh371452,897,314 - 53,019,223 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361451,967,059 - 52,088,963 (-)NCBINCBI36Build 36hg18NCBI36
Celera1432,764,912 - 32,886,888 (-)NCBICelera
Cytogenetic Map14q22.1NCBI
HuRef1433,057,647 - 33,180,093 (-)NCBIHuRef
CHM1_11452,836,496 - 52,958,271 (-)NCBICHM1_1
T2T-CHM13v2.01446,637,669 - 46,760,351 (-)NCBIT2T-CHM13v2.0
Txndc16
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391445,371,905 - 45,457,008 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1445,370,922 - 45,457,785 (-)EnsemblGRCm39 Ensembl
GRCm381445,134,448 - 45,219,551 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1445,133,465 - 45,220,328 (-)EnsemblGRCm38mm10GRCm38
MGSCv371445,754,123 - 45,839,069 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361444,056,325 - 44,141,271 (-)NCBIMGSCv36mm8
Celera1441,314,858 - 41,399,608 (-)NCBICelera
Cytogenetic Map14C1NCBI
cM Map1422.77NCBI
Txndc16
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81520,831,541 - 20,905,661 (-)NCBIGRCr8
mRatBN7.21518,351,688 - 18,425,833 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1518,351,694 - 18,425,722 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01519,472,522 - 19,547,384 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1519,473,373 - 19,541,815 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01523,438,029 - 23,512,690 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41521,024,241 - 21,098,469 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11521,025,091 - 21,098,469 (-)NCBI
Celera1518,780,144 - 18,854,497 (-)NCBICelera
Cytogenetic Map15p14NCBI
Txndc16
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540910,593,576 - 10,681,465 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540910,593,693 - 10,680,381 (+)NCBIChiLan1.0ChiLan1.0
TXNDC16
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21553,561,951 - 53,684,366 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11452,760,890 - 52,900,786 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01433,027,634 - 33,149,460 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11451,312,237 - 51,433,913 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1451,299,416 - 51,425,730 (-)Ensemblpanpan1.1panPan2
TXNDC16
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1828,672,257 - 28,795,401 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl828,674,519 - 28,795,356 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha828,417,404 - 28,540,530 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0828,839,967 - 28,961,575 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl828,839,985 - 28,961,505 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1828,512,373 - 28,635,313 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0828,578,167 - 28,707,403 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0828,914,842 - 29,036,369 (-)NCBIUU_Cfam_GSD_1.0
Txndc16
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864076,474,561 - 76,569,220 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366972,257,486 - 2,344,941 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366972,249,685 - 2,343,297 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TXNDC16
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1182,102,736 - 182,203,048 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11182,103,603 - 182,203,048 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TXNDC16
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12429,515,739 - 29,619,100 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2429,513,781 - 29,627,668 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605317,786,508 - 17,905,158 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Txndc16
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473116,531,651 - 16,629,343 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473116,531,707 - 16,630,293 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TXNDC16
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1 copy number loss See cases [RCV000051519] Chr14:50591011..56286919 [GRCh38]
Chr14:51057729..56753637 [GRCh37]
Chr14:50127479..55823390 [NCBI36]
Chr14:14q22.1-22.3		 pathogenic
NM_001160047.1(TXNDC16):c.1689-66C>G single nucleotide variant Lung cancer [RCV000098924] Chr14:52455528 [GRCh38]
Chr14:52922246 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1 copy number loss See cases [RCV000135883] Chr14:51544846..55320598 [GRCh38]
Chr14:52011564..55787316 [GRCh37]
Chr14:51081314..54857069 [NCBI36]
Chr14:14q22.1-22.3		 pathogenic
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 copy number gain See cases [RCV000140717] Chr14:39196172..56714461 [GRCh38]
Chr14:39665376..57181179 [GRCh37]
Chr14:38735127..56250932 [NCBI36]
Chr14:14q21.1-22.3		 likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_020784.3(TXNDC16):c.1426C>G (p.Pro476Ala) single nucleotide variant not specified [RCV004304890] Chr14:52470567 [GRCh38]
Chr14:52937285 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2284A>G (p.Arg762Gly) single nucleotide variant not specified [RCV004289661] Chr14:52432498 [GRCh38]
Chr14:52899216 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q22.1(chr14:52890163-53288450)x1 copy number loss not provided [RCV000751015] Chr14:52890163..53288450 [GRCh37]
Chr14:14q22.1		 benign
NM_020784.3(TXNDC16):c.1322C>T (p.Thr441Ile) single nucleotide variant not specified [RCV004290703] Chr14:52470671 [GRCh38]
Chr14:52937389 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_020784.3(TXNDC16):c.1658G>A (p.Gly553Glu) single nucleotide variant not specified [RCV004169200] Chr14:52457135 [GRCh38]
Chr14:52923853 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.645T>A (p.His215Gln) single nucleotide variant not specified [RCV004108346] Chr14:52511351 [GRCh38]
Chr14:52978069 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1645A>C (p.Asn549His) single nucleotide variant not specified [RCV004242131] Chr14:52457148 [GRCh38]
Chr14:52923866 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2231C>T (p.Pro744Leu) single nucleotide variant not specified [RCV004128603] Chr14:52432551 [GRCh38]
Chr14:52899269 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.263A>G (p.Glu88Gly) single nucleotide variant not specified [RCV004177526] Chr14:52537653 [GRCh38]
Chr14:53004371 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1136C>G (p.Thr379Ser) single nucleotide variant not specified [RCV004174274] Chr14:52482938 [GRCh38]
Chr14:52949656 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1280A>G (p.Gln427Arg) single nucleotide variant not specified [RCV004104910] Chr14:52482262 [GRCh38]
Chr14:52948980 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1525G>A (p.Ala509Thr) single nucleotide variant not specified [RCV004237955] Chr14:52470130 [GRCh38]
Chr14:52936848 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.553A>G (p.Thr185Ala) single nucleotide variant not specified [RCV004234976] Chr14:52514932 [GRCh38]
Chr14:52981650 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2354C>T (p.Ser785Leu) single nucleotide variant not specified [RCV004225128] Chr14:52432428 [GRCh38]
Chr14:52899146 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2074G>A (p.Val692Ile) single nucleotide variant not specified [RCV004211444] Chr14:52439324 [GRCh38]
Chr14:52906042 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2125C>A (p.Gln709Lys) single nucleotide variant not specified [RCV004243729] Chr14:52439273 [GRCh38]
Chr14:52905991 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.112A>G (p.Ser38Gly) single nucleotide variant not specified [RCV004137528] Chr14:52543446 [GRCh38]
Chr14:53010164 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1132G>A (p.Glu378Lys) single nucleotide variant not specified [RCV004084966] Chr14:52482942 [GRCh38]
Chr14:52949660 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1211C>T (p.Thr404Ile) single nucleotide variant not specified [RCV004234975] Chr14:52482863 [GRCh38]
Chr14:52949581 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.79T>C (p.Ser27Pro) single nucleotide variant not specified [RCV004241763] Chr14:52543479 [GRCh38]
Chr14:53010197 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1324A>G (p.Met442Val) single nucleotide variant not specified [RCV004163227] Chr14:52470669 [GRCh38]
Chr14:52937387 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1721C>T (p.Ala574Val) single nucleotide variant not specified [RCV004208854] Chr14:52455445 [GRCh38]
Chr14:52922163 [GRCh37]
Chr14:14q22.1		 likely benign
NM_020784.3(TXNDC16):c.721C>G (p.His241Asp) single nucleotide variant not specified [RCV004189256] Chr14:52511275 [GRCh38]
Chr14:52977993 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2099G>A (p.Gly700Asp) single nucleotide variant not specified [RCV004273251] Chr14:52439299 [GRCh38]
Chr14:52906017 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2199T>G (p.Ile733Met) single nucleotide variant not specified [RCV004261727] Chr14:52432583 [GRCh38]
Chr14:52899301 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.444G>C (p.Gln148His) single nucleotide variant not specified [RCV004277960] Chr14:52519242 [GRCh38]
Chr14:52985960 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2375T>C (p.Ile792Thr) single nucleotide variant not specified [RCV004343265] Chr14:52432407 [GRCh38]
Chr14:52899125 [GRCh37]
Chr14:14q22.1		 uncertain significance
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
GRCh37/hg19 14q22.1(chr14:53005584-53252148)x3 copy number gain not provided [RCV003485033] Chr14:53005584..53252148 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.633C>T (p.Leu211=) single nucleotide variant not provided [RCV003390398] Chr14:52511363 [GRCh38]
Chr14:52978081 [GRCh37]
Chr14:14q22.1		 likely benign
NM_020784.3(TXNDC16):c.1044A>C (p.Glu348Asp) single nucleotide variant not specified [RCV004484010] Chr14:52488427 [GRCh38]
Chr14:52955145 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1180G>C (p.Val394Leu) single nucleotide variant not specified [RCV004484011] Chr14:52482894 [GRCh38]
Chr14:52949612 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1227C>G (p.Asp409Glu) single nucleotide variant not specified [RCV004484012] Chr14:52482847 [GRCh38]
Chr14:52949565 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1366T>G (p.Cys456Gly) single nucleotide variant not specified [RCV004484013] Chr14:52470627 [GRCh38]
Chr14:52937345 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1568T>C (p.Leu523Ser) single nucleotide variant not specified [RCV004484014] Chr14:52470087 [GRCh38]
Chr14:52936805 [GRCh37]
Chr14:14q22.1		 likely benign
NM_020784.3(TXNDC16):c.1733C>T (p.Ala578Val) single nucleotide variant not specified [RCV004484015] Chr14:52455433 [GRCh38]
Chr14:52922151 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.1790C>T (p.Thr597Ile) single nucleotide variant not specified [RCV004484016] Chr14:52455376 [GRCh38]
Chr14:52922094 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2174C>T (p.Ala725Val) single nucleotide variant not specified [RCV004484017] Chr14:52439224 [GRCh38]
Chr14:52905942 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2267C>T (p.Thr756Ile) single nucleotide variant not specified [RCV004484018] Chr14:52432515 [GRCh38]
Chr14:52899233 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.251G>A (p.Cys84Tyr) single nucleotide variant not specified [RCV004484019] Chr14:52537665 [GRCh38]
Chr14:53004383 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.352A>G (p.Thr118Ala) single nucleotide variant not specified [RCV004484020] Chr14:52536759 [GRCh38]
Chr14:53003477 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.538G>A (p.Ala180Thr) single nucleotide variant not specified [RCV004484021] Chr14:52514947 [GRCh38]
Chr14:52981665 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.779A>G (p.Gln260Arg) single nucleotide variant not specified [RCV004484022] Chr14:52490983 [GRCh38]
Chr14:52957701 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.88G>C (p.Glu30Gln) single nucleotide variant not specified [RCV004484024] Chr14:52543470 [GRCh38]
Chr14:53010188 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2411A>G (p.Asn804Ser) single nucleotide variant not specified [RCV004687891] Chr14:52432371 [GRCh38]
Chr14:52899089 [GRCh37]
Chr14:14q22.1		 uncertain significance
NM_020784.3(TXNDC16):c.2185A>T (p.Asn729Tyr) single nucleotide variant not specified [RCV004677616] Chr14:52439213 [GRCh38]
Chr14:52905931 [GRCh37]
Chr14:14q22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:822
Count of miRNA genes:608
Interacting mature miRNAs:664
Transcripts:ENST00000281741, ENST00000554399, ENST00000555312, ENST00000557374
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406924704GWAS573680_H6-bromotryptophan measurement QTL GWAS573680 (human)6e-586-bromotryptophan measurement145251494652514947Human
406924706GWAS573682_H6-bromotryptophan measurement QTL GWAS573682 (human)2e-516-bromotryptophan measurement145247053752470538Human
407219168GWAS868144_Hserum metabolite measurement QTL GWAS868144 (human)5e-13serum metabolite measurement145251494652514947Human
406885702GWAS534678_Hperipheral arterial disease, traffic air pollution measurement QTL GWAS534678 (human)0.000004peripheral arterial disease, traffic air pollution measurement145249493052494931Human
406900296GWAS549272_Hrheumatoid arthritis QTL GWAS549272 (human)0.000001rheumatoid arthritis145246516652465167Human
406916776GWAS565752_Hobsolete Mendelian syndromes with cleft lip/palate QTL GWAS565752 (human)0.0000008obsolete Mendelian syndromes with cleft lip/palate145252251052522511Human
407096137GWAS745113_H6-bromotryptophan measurement QTL GWAS745113 (human)3e-216-bromotryptophan measurement145251494652514947Human
406900331GWAS549307_Hrheumatoid arthritis QTL GWAS549307 (human)0.000002rheumatoid arthritis145245517852455179Human
407062063GWAS711039_H6-bromotryptophan measurement QTL GWAS711039 (human)2e-586-bromotryptophan measurement145251494652514947Human
407269867GWAS918843_Hamino acid measurement QTL GWAS918843 (human)0.000002amino acid measurement145247053752470538Human
407275094GWAS924070_Hbody height QTL GWAS924070 (human)7e-23body height (VT:0001253)body height (CMO:0000106)145248430152484302Human
407189297GWAS838273_Hlipid measurement QTL GWAS838273 (human)0.000002lipid measurementblood lipid measurement (CMO:0000050)145249276052492761Human
407026614GWAS675590_H6-bromotryptophan measurement QTL GWAS675590 (human)8e-896-bromotryptophan measurement145251494652514947Human
407026613GWAS675589_H6-bromotryptophan measurement QTL GWAS675589 (human)2e-206-bromotryptophan measurement145245710252457103Human
407297681GWAS946657_HTinnitus QTL GWAS946657 (human)3e-09Tinnitus145250659852506599Human
407093338GWAS742314_Hlevel of 5-bromotryptophan in blood QTL GWAS742314 (human)2e-17level of 5-bromotryptophan in blood145251494652514947Human
407297949GWAS946925_HTinnitus QTL GWAS946925 (human)7e-09Tinnitus145250659852506599Human
407329465GWAS978441_H6-bromotryptophan measurement QTL GWAS978441 (human)7e-1006-bromotryptophan measurement145251494652514947Human

Markers in Region
G35830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371453,016,222 - 53,016,323UniSTSGRCh37
Build 361452,085,972 - 52,086,073RGDNCBI36
Celera1432,883,809 - 32,883,910RGD
Cytogenetic Map14q22.1UniSTS
HuRef1433,177,019 - 33,177,120UniSTS
SHGC-143165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371452,952,669 - 52,953,002UniSTSGRCh37
Build 361452,022,419 - 52,022,752RGDNCBI36
Celera1432,820,256 - 32,820,589RGD
Cytogenetic Map14q22.1UniSTS
HuRef1433,113,006 - 33,113,339UniSTS
TNG Radiation Hybrid Map1414825.0UniSTS
SHGC-149440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371452,988,429 - 52,988,731UniSTSGRCh37
Build 361452,058,179 - 52,058,481RGDNCBI36
Celera1432,856,016 - 32,856,318RGD
Cytogenetic Map14q22.1UniSTS
HuRef1433,148,782 - 33,149,084UniSTS
TNG Radiation Hybrid Map1414814.0UniSTS
RH78442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371452,897,484 - 52,897,602UniSTSGRCh37
Build 361451,967,234 - 51,967,352RGDNCBI36
Celera1432,765,088 - 32,765,206RGD
Cytogenetic Map14q22.1UniSTS
HuRef1433,057,823 - 33,057,941UniSTS
GeneMap99-GB4 RH Map14122.63UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001160047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054376461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA231411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB083799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000281741   ⟹   ENSP00000281741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1452,430,596 - 52,552,505 (-)Ensembl
Ensembl Acc Id: ENST00000554399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1452,439,259 - 52,552,522 (-)Ensembl
Ensembl Acc Id: ENST00000555312   ⟹   ENSP00000451619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1452,430,645 - 52,552,505 (-)Ensembl
Ensembl Acc Id: ENST00000557374   ⟹   ENSP00000450839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1452,488,363 - 52,552,505 (-)Ensembl
Ensembl Acc Id: ENST00000850587   ⟹   ENSP00000520874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1452,429,472 - 52,552,547 (-)Ensembl
Ensembl Acc Id: ENST00000850588   ⟹   ENSP00000520875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1452,430,655 - 52,552,505 (-)Ensembl
RefSeq Acc Id: NM_001160047   ⟹   NP_001153519
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381452,430,596 - 52,552,505 (-)NCBI
GRCh371452,897,308 - 53,019,301 (-)RGD
Celera1432,764,912 - 32,886,888 (-)RGD
HuRef1433,057,647 - 33,180,093 (-)RGD
CHM1_11452,836,496 - 52,958,271 (-)NCBI
T2T-CHM13v2.01446,637,669 - 46,760,351 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020784   ⟹   NP_065835
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381452,430,596 - 52,552,505 (-)NCBI
GRCh371452,897,308 - 53,019,301 (-)RGD
Build 361451,967,059 - 52,088,963 (-)NCBI Archive
Celera1432,764,912 - 32,886,888 (-)RGD
HuRef1433,057,647 - 33,180,093 (-)RGD
CHM1_11452,836,496 - 52,958,271 (-)NCBI
T2T-CHM13v2.01446,637,669 - 46,760,351 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021505   ⟹   XP_016876994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381452,470,593 - 52,552,505 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054376461   ⟹   XP_054232436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01446,677,658 - 46,760,351 (-)NCBI
RefSeq Acc Id: XR_007064037
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381452,457,088 - 52,552,505 (-)NCBI
RefSeq Acc Id: XR_007064038
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381452,457,088 - 52,552,505 (-)NCBI
RefSeq Acc Id: XR_008488886
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01446,664,150 - 46,760,351 (-)NCBI
RefSeq Acc Id: XR_008488887
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01446,664,150 - 46,760,351 (-)NCBI
RefSeq Acc Id: NP_065835   ⟸   NM_020784
- Peptide Label: isoform 1 precursor
- UniProtKB: B9EH67 (UniProtKB/Swiss-Prot),   A7MD07 (UniProtKB/Swiss-Prot),   A7E260 (UniProtKB/Swiss-Prot),   A5PKW9 (UniProtKB/Swiss-Prot),   Q9H9W7 (UniProtKB/Swiss-Prot),   Q9P2K2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001153519   ⟸   NM_001160047
- Peptide Label: isoform 2 precursor
- UniProtKB: B7ZME4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016876994   ⟸   XM_017021505
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000451619   ⟸   ENST00000555312
Ensembl Acc Id: ENSP00000450839   ⟸   ENST00000557374
Ensembl Acc Id: ENSP00000281741   ⟸   ENST00000281741
RefSeq Acc Id: XP_054232436   ⟸   XM_054376461
- Peptide Label: isoform X1
Ensembl Acc Id: ENSP00000520875   ⟸   ENST00000850588
Ensembl Acc Id: ENSP00000520874   ⟸   ENST00000850587
Protein Domains
Thioredoxin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P2K2-F1-model_v2 AlphaFold Q9P2K2 1-825 view protein structure

Promoters
RGD ID:6791975
Promoter ID:HG_KWN:19382
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001160047,   NM_020784,   UC010AOE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361452,088,866 - 52,089,457 (-)MPROMDB
RGD ID:7227617
Promoter ID:EPDNEW_H19553
Type:initiation region
Name:TXNDC16_1
Description:thioredoxin domain containing 16
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19554  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381452,552,503 - 52,552,563EPDNEW
RGD ID:7227615
Promoter ID:EPDNEW_H19554
Type:initiation region
Name:TXNDC16_2
Description:thioredoxin domain containing 16
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19553  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381452,552,624 - 52,552,684EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19965 AgrOrtholog
COSMIC TXNDC16 COSMIC
Ensembl Genes ENSG00000087301 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000281741 ENTREZGENE
  ENST00000281741.9 UniProtKB/Swiss-Prot
  ENST00000555312.1 UniProtKB/TrEMBL
  ENST00000557374.1 UniProtKB/TrEMBL
  ENST00000850588 ENTREZGENE
Gene3D-CATH Glutaredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000087301 GTEx
HGNC ID HGNC:19965 ENTREZGENE
Human Proteome Map TXNDC16 Human Proteome Map
InterPro Thioredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TXNDC16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57544 UniProtKB/Swiss-Prot
NCBI Gene 57544 ENTREZGENE
OMIM 616179 OMIM
PANTHER PTHR22699 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THIOREDOXIN DOMAIN-CONTAINING PROTEIN 16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Thioredoxin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thioredoxin_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162407488 PharmGKB
Superfamily-SCOP SSF52833 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5PKW9 ENTREZGENE
  A7E260 ENTREZGENE
  A7MD07 ENTREZGENE
  B7ZME4 ENTREZGENE, UniProtKB/TrEMBL
  B9EH67 ENTREZGENE
  G3V2S5_HUMAN UniProtKB/TrEMBL
  H0YJI6_HUMAN UniProtKB/TrEMBL
  Q9H9W7 ENTREZGENE
  Q9P2K2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A5PKW9 UniProtKB/Swiss-Prot
  A7E260 UniProtKB/Swiss-Prot
  A7MD07 UniProtKB/Swiss-Prot
  B9EH67 UniProtKB/Swiss-Prot
  Q9H9W7 UniProtKB/Swiss-Prot